Canonical Allele Identifier: CA956830
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 739369
ClinVar RCV Id: RCV000915333
dbSNP Id: rs375495352
ExAC: 1:94463477 G / A
gnomAD v2: 1-94463477-G-A
gnomAD v3: 1-93997921-G-A
gnomAD v4: 1-93997921-G-A
MyVariant Identifiers: chr1:g.94463477G>A (hg19) chr1:g.93997921G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997921G>A , CM000663.2:g.93997921G>A GRCh38
NC_000001.10:g.94463477G>A , CM000663.1:g.94463477G>A GRCh37
NC_000001.9:g.94236065G>A NCBI36
NG_009073.1:g.128229C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6669C>T MANE Select ENSP00000359245.3:p.Leu2223=
ENST00000370225.3:c.6669C>T ENSP00000359245.3:p.Leu2223=
ENST00000536513.5:c.3045C>T ENSP00000439707.2:p.Leu1015=
NM_000350.2:c.6669C>T NP_000341.2:p.Leu2223=
NM_000350.3:c.6669C>T MANE Select NP_000341.2:p.Leu2223=
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Search 100 bp 3'